The present study describes the coexistence of bilateral macular edema with pale optic disc in a patient with a homozygous deletion in the <i>VPS13B/COH1</i> gene.<h4>Material and methods</h4>A 6-year-old Caucasian girl with facial dysmorphism, microcephaly, prominent upper incisors, narrow hands with slender fingers, congenital heart defect and ophthalmic symptoms was subjected to genetic testing. This evidence concerns the gene VPS13B and macular retinal edema.